CNNM2 (cyclin and CBS domain divalent metal cation transport mediator 2)

Gene

• Entrez ID: 54805
• Gene name: Cyclin and CBS domain divalent metal cation transport mediator 2
• Gene symbol: CNNM2
• Synonyms: ACDP2, HOMG6, HOMGSMR, SLC70A2
• Chromosome: 10
• Chromosome location: 10q24.32
• Summary: This gene encodes a member of the ancient conserved domain containing protein family. Members of this protein family contain a cyclin box motif and have structural similarity to the cyclins. The encoded protein may play an important role in magnesium home

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs387906975	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT022053	hsa-miR-128-3p	Microarray	17612493
MIRT022806	hsa-miR-124-3p	Microarray	18668037
MIRT027164	hsa-miR-103a-3p	Sequencing	20371350
MIRT029773	hsa-miR-26b-5p	Microarray	19088304
MIRT031855	hsa-miR-16-5p	Sequencing	20371350
MIRT659449	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT659448	hsa-miR-4301	HITS-CLIP	23824327
MIRT668938	hsa-miR-1236-3p	HITS-CLIP	23824327
MIRT659446	hsa-miR-188-3p	HITS-CLIP	23824327
MIRT659445	hsa-miR-1260a	HITS-CLIP	23824327
MIRT659444	hsa-miR-1260b	HITS-CLIP	23824327
MIRT659443	hsa-miR-3156-3p	HITS-CLIP	23824327
MIRT659449	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT659448	hsa-miR-4301	HITS-CLIP	23824327
MIRT659447	hsa-miR-5186	HITS-CLIP	23824327
MIRT659446	hsa-miR-188-3p	HITS-CLIP	23824327
MIRT659445	hsa-miR-1260a	HITS-CLIP	23824327
MIRT659444	hsa-miR-1260b	HITS-CLIP	23824327
MIRT659443	hsa-miR-3156-3p	HITS-CLIP	23824327
MIRT027164	hsa-miR-103a-3p	PAR-CLIP	21572407
MIRT055242	hsa-miR-107	PAR-CLIP	21572407
MIRT558642	hsa-miR-503-5p	PAR-CLIP	21572407
MIRT558641	hsa-miR-646	PAR-CLIP	21572407
MIRT055249	hsa-miR-635	PAR-CLIP	21572407
MIRT055254	hsa-miR-6774-5p	PAR-CLIP	21572407
MIRT055251	hsa-miR-4524a-5p	PAR-CLIP	21572407
MIRT055253	hsa-miR-4524b-5p	PAR-CLIP	21572407
MIRT055252	hsa-miR-4642	PAR-CLIP	21572407
MIRT558640	hsa-miR-3940-5p	PAR-CLIP	21572407
MIRT558639	hsa-miR-4507	PAR-CLIP	21572407
MIRT558638	hsa-miR-6839-3p	PAR-CLIP	21572407
MIRT558637	hsa-miR-218-5p	PAR-CLIP	21572407
MIRT558636	hsa-miR-6768-5p	PAR-CLIP	21572407
MIRT558635	hsa-miR-4464	PAR-CLIP	21572407
MIRT558634	hsa-miR-4748	PAR-CLIP	21572407
MIRT558633	hsa-miR-329-5p	PAR-CLIP	21572407
MIRT558632	hsa-miR-616-3p	PAR-CLIP	21572407
MIRT558631	hsa-miR-636	PAR-CLIP	21572407
MIRT558630	hsa-miR-4672	PAR-CLIP	21572407
MIRT558629	hsa-miR-3924	PAR-CLIP	21572407
MIRT558628	hsa-miR-6509-5p	PAR-CLIP	21572407
MIRT558627	hsa-miR-2113	PAR-CLIP	21572407
MIRT538451	hsa-miR-216a-5p	PAR-CLIP	22012620
MIRT538450	hsa-miR-6165	PAR-CLIP	22012620
MIRT538449	hsa-miR-4762-5p	PAR-CLIP	22012620
MIRT538448	hsa-miR-214-3p	PAR-CLIP	22012620
MIRT538447	hsa-miR-3619-5p	PAR-CLIP	22012620
MIRT538446	hsa-miR-761	PAR-CLIP	22012620
MIRT538445	hsa-miR-6870-3p	PAR-CLIP	22012620
MIRT538443	hsa-miR-2277-3p	PAR-CLIP	22012620
MIRT538444	hsa-miR-4423-3p	PAR-CLIP	22012620
MIRT538442	hsa-miR-1272	PAR-CLIP	22012620
MIRT538440	hsa-miR-3682-3p	PAR-CLIP	22012620
MIRT538441	hsa-miR-765	PAR-CLIP	22012620
MIRT538439	hsa-miR-4709-3p	PAR-CLIP	22012620
MIRT449692	hsa-miR-4802-5p	PAR-CLIP	22100165
MIRT449691	hsa-miR-205-3p	PAR-CLIP	22100165
MIRT449690	hsa-miR-490-5p	PAR-CLIP	22100165
MIRT449689	hsa-miR-3689d	PAR-CLIP	22100165
MIRT449688	hsa-miR-6851-5p	PAR-CLIP	22100165
MIRT439168	hsa-let-7c-5p	3'LIFE	25074381
MIRT439168	hsa-let-7c-5p	3'LIFE	25074381
MIRT538451	hsa-miR-216a-5p	PAR-CLIP	26701625
MIRT538443	hsa-miR-2277-3p	PAR-CLIP	26701625
MIRT538444	hsa-miR-4423-3p	PAR-CLIP	26701625
MIRT538449	hsa-miR-4762-5p	PAR-CLIP	26701625
MIRT538445	hsa-miR-6870-3p	PAR-CLIP	26701625
MIRT659449	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT659448	hsa-miR-4301	HITS-CLIP	23824327
MIRT668938	hsa-miR-1236-3p	HITS-CLIP	23824327
MIRT659446	hsa-miR-188-3p	HITS-CLIP	23824327
MIRT659445	hsa-miR-1260a	HITS-CLIP	23824327
MIRT659444	hsa-miR-1260b	HITS-CLIP	23824327
MIRT659443	hsa-miR-3156-3p	HITS-CLIP	23824327
MIRT659449	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT659448	hsa-miR-4301	HITS-CLIP	23824327
MIRT659447	hsa-miR-5186	HITS-CLIP	23824327
MIRT659446	hsa-miR-188-3p	HITS-CLIP	23824327
MIRT659445	hsa-miR-1260a	HITS-CLIP	23824327
MIRT659444	hsa-miR-1260b	HITS-CLIP	23824327
MIRT659443	hsa-miR-3156-3p	HITS-CLIP	23824327
MIRT027164	hsa-miR-103a-3p	PAR-CLIP	21572407
MIRT055242	hsa-miR-107	PAR-CLIP	21572407
MIRT558642	hsa-miR-503-5p	PAR-CLIP	21572407
MIRT558641	hsa-miR-646	PAR-CLIP	21572407
MIRT055249	hsa-miR-635	PAR-CLIP	21572407
MIRT055254	hsa-miR-6774-5p	PAR-CLIP	21572407
MIRT055251	hsa-miR-4524a-5p	PAR-CLIP	21572407
MIRT055253	hsa-miR-4524b-5p	PAR-CLIP	21572407
MIRT055252	hsa-miR-4642	PAR-CLIP	21572407
MIRT558640	hsa-miR-3940-5p	PAR-CLIP	21572407
MIRT558639	hsa-miR-4507	PAR-CLIP	21572407
MIRT558638	hsa-miR-6839-3p	PAR-CLIP	21572407
MIRT558637	hsa-miR-218-5p	PAR-CLIP	21572407
MIRT558636	hsa-miR-6768-5p	PAR-CLIP	21572407
MIRT558635	hsa-miR-4464	PAR-CLIP	21572407
MIRT558634	hsa-miR-4748	PAR-CLIP	21572407
MIRT558633	hsa-miR-329-5p	PAR-CLIP	21572407
MIRT558632	hsa-miR-616-3p	PAR-CLIP	21572407
MIRT558631	hsa-miR-636	PAR-CLIP	21572407
MIRT558630	hsa-miR-4672	PAR-CLIP	21572407
MIRT558629	hsa-miR-3924	PAR-CLIP	21572407
MIRT558628	hsa-miR-6509-5p	PAR-CLIP	21572407
MIRT558627	hsa-miR-2113	PAR-CLIP	21572407
MIRT538451	hsa-miR-216a-5p	PAR-CLIP	22012620
MIRT538450	hsa-miR-6165	PAR-CLIP	22012620
MIRT538449	hsa-miR-4762-5p	PAR-CLIP	22012620
MIRT538448	hsa-miR-214-3p	PAR-CLIP	22012620
MIRT538447	hsa-miR-3619-5p	PAR-CLIP	22012620
MIRT538446	hsa-miR-761	PAR-CLIP	22012620
MIRT538445	hsa-miR-6870-3p	PAR-CLIP	22012620
MIRT538443	hsa-miR-2277-3p	PAR-CLIP	22012620
MIRT538444	hsa-miR-4423-3p	PAR-CLIP	22012620
MIRT538442	hsa-miR-1272	PAR-CLIP	22012620
MIRT538440	hsa-miR-3682-3p	PAR-CLIP	22012620
MIRT538441	hsa-miR-765	PAR-CLIP	22012620
MIRT538439	hsa-miR-4709-3p	PAR-CLIP	22012620
MIRT449692	hsa-miR-4802-5p	PAR-CLIP	22100165
MIRT449691	hsa-miR-205-3p	PAR-CLIP	22100165
MIRT449690	hsa-miR-490-5p	PAR-CLIP	22100165
MIRT449689	hsa-miR-3689d	PAR-CLIP	22100165
MIRT449688	hsa-miR-6851-5p	PAR-CLIP	22100165
MIRT899995	hsa-miR-101	CLIP-seq
MIRT899996	hsa-miR-1301	CLIP-seq
MIRT899997	hsa-miR-3126-5p	CLIP-seq
MIRT899998	hsa-miR-3154	CLIP-seq
MIRT899999	hsa-miR-3944-5p	CLIP-seq
MIRT900000	hsa-miR-4660	CLIP-seq
MIRT900001	hsa-miR-4715-5p	CLIP-seq
MIRT900002	hsa-miR-4779	CLIP-seq
MIRT900003	hsa-miR-4797-5p	CLIP-seq
MIRT900004	hsa-miR-493	CLIP-seq
MIRT900005	hsa-miR-5047	CLIP-seq
MIRT900006	hsa-miR-759	CLIP-seq
MIRT1966941	hsa-miR-1915	CLIP-seq
MIRT899997	hsa-miR-3126-5p	CLIP-seq
MIRT1966942	hsa-miR-3157-5p	CLIP-seq
MIRT1966943	hsa-miR-3202	CLIP-seq
MIRT1966944	hsa-miR-369-5p	CLIP-seq
MIRT1966945	hsa-miR-4691-3p	CLIP-seq
MIRT900002	hsa-miR-4779	CLIP-seq
MIRT2202716	hsa-miR-1909	CLIP-seq
MIRT2202717	hsa-miR-4252	CLIP-seq
MIRT1966945	hsa-miR-4691-3p	CLIP-seq
MIRT2447307	hsa-miR-106a	CLIP-seq
MIRT2447308	hsa-miR-106b	CLIP-seq
MIRT2447309	hsa-miR-17	CLIP-seq
MIRT2447310	hsa-miR-20a	CLIP-seq
MIRT2447311	hsa-miR-20b	CLIP-seq
MIRT2447312	hsa-miR-371-3p	CLIP-seq
MIRT2447313	hsa-miR-4438	CLIP-seq
MIRT2447314	hsa-miR-5095	CLIP-seq
MIRT2447315	hsa-miR-519d	CLIP-seq
MIRT2447316	hsa-miR-520g	CLIP-seq
MIRT2447317	hsa-miR-520h	CLIP-seq
MIRT2447318	hsa-miR-93	CLIP-seq
MIRT2447307	hsa-miR-106a	CLIP-seq
MIRT2447308	hsa-miR-106b	CLIP-seq
MIRT2447309	hsa-miR-17	CLIP-seq
MIRT2447310	hsa-miR-20a	CLIP-seq
MIRT2447311	hsa-miR-20b	CLIP-seq
MIRT2447312	hsa-miR-371-3p	CLIP-seq
MIRT2447313	hsa-miR-4438	CLIP-seq
MIRT2447314	hsa-miR-5095	CLIP-seq
MIRT2447315	hsa-miR-519d	CLIP-seq
MIRT2447316	hsa-miR-520g	CLIP-seq
MIRT2447317	hsa-miR-520h	CLIP-seq
MIRT2447318	hsa-miR-93	CLIP-seq
MIRT2447313	hsa-miR-4438	CLIP-seq
MIRT2447314	hsa-miR-5095	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005524	Function	ATP binding	IEA
GO:0005886	Component	Plasma membrane	IBA	21873635
GO:0006810	Process	Transport	IBA	21873635
GO:0010960	Process	Magnesium ion homeostasis	IBA	21873635
GO:0010960	Process	Magnesium ion homeostasis	IMP	21397062
GO:0015095	Function	Magnesium ion transmembrane transporter activity	IBA	21873635
GO:0016021	Component	Integral component of membrane	IEA
GO:0016323	Component	Basolateral plasma membrane	IMP	21397062
GO:0022857	Function	Transmembrane transporter activity	IBA	21873635
GO:0043231	Component	Intracellular membrane-bounded organelle	IBA	21873635
GO:0043231	Component	Intracellular membrane-bounded organelle	IDA
GO:1903830	Process	Magnesium ion transmembrane transport	IEA

Other IDs

• MIM: 607803
• HGNC: 103
• e!Ensembl: ENSG00000148842

Protein

• UniProt ID: Q9H8M5
• Protein name: Metal transporter CNNM2 (Ancient conserved domain-containing protein 2) (Cyclin-M2)
• Protein function: Divalent metal cation transporter. Mediates transport of divalent metal cations in an order of Mg(2+) > Co(2+) > Mn(2+) > Sr(2+) > Ba(2+) > Cu(2+) > Fe(2+) (By similarity).
• PDB: 4IY0, 4IY2, 4IY4, 4IYS, 6DJ3, 6N7E, 8F6D
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01595	DUF21	260 → 431	Cyclin M transmembrane N-terminal domain	Domain
  PF00571	CBS	514 → 578	CBS domain	Domain

• Sequence:

  MIGCGACEPKVKMAGGQAAAALPTWKMAARRSLSARGRGILQAAAGRLLPLLLLSCCCGA
  GGCAAVGENEETVIIGLRLEDTNDVSFMEGGALRVSERTRVKLRVYGQNINNETWSRIAF
  TEHERRRHSPGERGLGGPAPPEPDSGPQRCGIRTSDIIILPHIILNRRTSGIIEIEIKPL
  RKMEKSKSYYLCTSLSTPALGAGGSGSTGGAVGGKGGSGVAGLPPPPWAETTWIYHDGED
  TKMIVGEEKKFLLPFWLQVIFISLLLCLSGMFSGLNLGLMALDPMELRIVQNCGTEKEKN
  YAKRIEPVRRQGNYLLCSLLLGNVLVNTTLTILLDDIAGSGLVAVVVSTIGIVIFGEIVP
  QAICSRHGLAVGANTIFLTKFFMMMTFPASYPVSKLLDCVLGQEIGTVYNREKLLEMLRV
  TDPYNDLVKEELNIIQGALELRTKTVEDVMTPLRDCFMITGEAILDFNTMSEIMESGYTR
  IPVFEGERSNIVDLLFVKDLAFVDPDDCTPLKTITKFYNHPLHFVFNDTKLDAMLEEFKK
  GKSHLAIVQRVNNEGEGDPFYEVLGIVTLEDVIEEIIKSEILDETDLYTDNRTKKKVAHR
  ERKQDFSAFKQTDSEMKVKISPQLLLAMHRFLATEVEAFSPSQMSEKILLRLLKHPNVIQ
  ELKYDEKNKKAPEYYLYQRNKPVDYFVLILQGKVEVEAGKEGMKFEASAFSYYGVMALTA
  SPVPLSLSRTFVVSRTELLAAGSPGENKSPPRPCGLNHSDSLSRSDRIDAVTPTLGSSNN
  QLNSSLLQVYIPDYSVRALSDLQFVKISRQQYQNALMASRMDKTPQSSDSENTKIELTLT
  ELHDGLPDETANLLNEQNCVTHSKANHSLHNEGAI

• Sequence length: 875

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Attention deficit hyperactivity disorder	Attention deficit hyperactivity disorder	rs120074176, rs786205019	23453885
Autism	Autistic behavior	rs121964908, rs121912597, rs2710102, rs7794745, rs142990298, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699, rs1553510219, rs1684182454, rs1559060428, rs1553510677, rs1576352885, rs1574152522, rs1574152672, rs1696658542, rs1751123722, rs1750373491, rs1751075634
Coronary artery disease	CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1, Coronary Artery Disease	rs137852988, rs121918313, rs121918529, rs121918531, rs137852340, rs405509, rs1555800701, rs1215189537	23202125, 29212778, 24262325
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Hypertension	Hypertensive disease	rs13306026, rs13333226	30487518
Renal hypomagnesemia	HYPOMAGNESEMIA 6, RENAL	rs28938168, rs121434567, rs1564803221, rs387906975	27604308, 21397062
Intracranial aneurysm	Intracranial Aneurysm	rs1594095223	20364137
Kidney disease	Kidney Diseases	rs74315342, rs749740335, rs757649673, rs112417755, rs35138315	23027747
Mental retardation	Moderate intellectual disability, Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019, rs199422184, rs137852994, rs137852995, rs137852996, rs137852997, rs145489194, rs80338860, rs137852494, rs121918609, rs199422207, rs199422206, rs29001566, rs864321658, rs199422138, rs199422139, rs199422141, rs199422144, rs199422147, rs199422151, rs199422152, rs199422153, rs199422157, rs199422159, rs199422160, rs199422161, rs140602858, rs199422164, rs199422165, rs148294838, rs199422134, rs199422168, rs199422172, rs199422173, rs199422131, rs199422177, rs199422180, rs199422185, rs199422186, rs199422187, rs143931757, rs199422189, rs199422192, rs199422194, rs199422195, rs199422196, rs199422197, rs199422199, rs753597039, rs1488084787, rs387906961, rs755862917, rs387907082, rs587776899, rs387907083, rs587776900, rs587776901, rs387907084, rs863223322, rs764201220, rs202247811, rs763915472, rs587776986, rs587777036, rs398122971, rs374351172, rs373278668, rs398122976, rs121909123, rs587783393, rs730882076, rs587783211, rs144716013, rs606231255, rs587783215, rs587783216, rs587783220, rs587783221, rs587783225, rs587783227, rs587783228, rs587783230, rs587783238, rs587783239, rs587783240, rs587783245, rs587783247, rs587783248, rs587783258, rs587783259, rs587783263, rs587783265, rs587783268, rs587783269, rs587783272, rs587783275, rs587783277, rs587783278, rs587783280, rs587783282, rs587783283, rs587783285, rs587783287, rs587783288, rs587783289, rs587783292, rs587783295, rs587784452, rs587783741, rs587783735, rs587783392, rs587783390, rs587783387, rs587783410, rs202058504, rs587783423, rs587783421, rs587783414, rs587784553, rs587784558, rs587784546, rs587784549, rs587784554, rs587784412, rs876661307, rs869025200, rs747831095, rs748529285, rs797045316, rs797045315, rs797045314, rs759632528, rs797045313, rs797045311, rs754282058, rs797045441, rs797045454, rs797045430, rs869312853, rs797046109, rs767399782, rs863225127, rs863225464, rs863225465, rs780270096, rs864321621, rs864321620, rs775277800, rs879253817, rs869312824, rs761447719, rs753406334, rs147622433, rs199422137, rs879255522, rs879255524, rs879255523, rs886037892, rs886037893, rs886037894, rs886037895, rs199422169, rs886041709, rs886041282, rs138228629, rs759188041, rs769688376, rs1057517688, rs1057519087, rs1057518268, rs933106143, rs201362977, rs754909135, rs1057520873, rs1060499758, rs1060499757, rs199422146, rs748016594, rs1085307120, rs763715733, rs1064795945, rs763800571, rs1554728351, rs1553227021, rs555866170, rs1553895368, rs1334947797, rs769818500, rs1321892596, rs1553227645, rs1404276011, rs1553228275, rs1554471681, rs1554496609, rs1555420891, rs1555418825, rs587784548, rs1555723585, rs199736219, rs745997770, rs765275884, rs1553924800, rs1554730137, rs1229568621, rs1482100822, rs979186313, rs758157294, rs1555294652, rs1555299107, rs1553264033, rs1553259539, rs1553254322, rs1553259528, rs981349334, rs1553264036, rs1553253022, rs754267846, rs776034810, rs1342429887, rs752140135, rs1006898944, rs571640983, rs1477524771, rs763909256, rs199910503, rs1553223496, rs759663956, rs1553446603, rs1555139372, rs1555143325, rs1350194762, rs1555141158, rs1553225179, rs769481947, rs769364943, rs748011724, rs1334301723, rs746341112, rs149225624, rs765113367, rs1567024512, rs142865061, rs772050241, rs201721894, rs1557966012, rs1379578836, rs1568334868, rs1185537869, rs1602333390, rs1163303148, rs774338373, rs770540184, rs1571600045, rs1571601267, rs1571602991, rs1588472215, rs1599841026, rs1558328287, rs1571600860, rs1571596976, rs1309880692, rs1435239428, rs1588634016, rs1751797979, rs1810830776, rs1815354949, rs1949984655, rs886039658, rs1943461045, rs777711720, rs2031759596, rs1555710223, rs1221031683, rs774069989, rs2058919680, rs1170413397, rs1213710245, rs1599851667, rs1599760058, rs1971033478, rs746967357
Migraine	Migraine Disorders	rs794727411	23793025
Obesity	Obesity	rs34911341, rs74315349, rs1474810899, rs2282440, rs2491132, rs121918111, rs796065034, rs753856820, rs796065035, rs121918112, rs104894023, rs137852821, rs1580764441, rs137852822, rs137852823, rs137852824, rs13447324, rs121913562, rs121913564, rs74315393, rs121913556, rs2989924, rs193922650, rs193922685, rs193922687, rs751160202, rs1421085, rs747681609, rs1553400259, rs13447339, rs370479598, rs1554394014, rs1553174844, rs756232889, rs369841551, rs1557670950, rs1571321748, rs148538980, rs1572820988, rs1591461970, rs1419374563, rs745921568, rs144159890, rs1570714352, rs779783209, rs1573250294, rs1573254045, rs1580744791, rs1580746829, rs6548238, rs7138803, rs7754840
Parkinson disease	Parkinson Disease	rs116074753, rs118203903, rs118203904, rs115735611, rs33939927, rs35801418, rs34805604, rs35870237, rs34995376, rs74315355, rs28940284, rs74315356, rs74315357, rs28940285, rs730880302, rs750664040, rs74315359, rs74315360, rs45539432, rs74315361, rs119451946, rs80356771, rs74500255, rs75822236, rs1141814, rs78973108, rs121908681, rs121908686, rs121908687, rs137853054, rs137853055, rs137853056, rs137853057, rs137853058, rs137853059, rs34424986, rs137853060, rs397518439, rs28938172, rs74315351, rs74315353, rs137853051, rs118192098, rs121917767, rs121918104, rs1589451049, rs104893877, rs104893878, rs283413, rs112176450, rs111290936, rs188286943, rs387906863, rs387906864, rs774631197, rs199935023, rs387906942, rs397514694, rs398122403, rs398122404, rs398122405, rs104886460, rs409652, rs431905511, rs63751392, rs756677845, rs864309527, rs864309650, rs750014782, rs1554391082, rs864622011, rs869312810, rs869312809, rs869312811, rs369100678, rs879253853, rs869320761, rs747506979, rs879255630, rs886039854, rs191486604, rs781442277, rs1060499619, rs751037529, rs55777503, rs768091663, rs34208370, rs1553122929, rs772786691, rs754809877, rs1555907463, rs1557561340, rs781600849, rs141263564, rs1557901552, rs777160388, rs756783990, rs867929413, rs1237637353, rs1005937012, rs755000580, rs747427602, rs1578089802, rs771586218, rs748142049, rs1582953433, rs746646126, rs771529549, rs121918106	19915575
Schizophrenia	Schizophrenia	rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313	24311551, 26198764, 30285260, 24160291, 21926974, 28991256, 23453885
Seizure	Complex partial seizures, Generalized seizures, Visual seizure, Tonic - clonic seizures, Single Seizure	rs587784365, rs28939683, rs74315390, rs28939684, rs74315391, rs267607198, rs74315392, rs118192244, rs118192250, rs121917749, rs121917750, rs121917751, rs121917752, rs267606670, rs267607061, rs121912707, rs118192249, rs118192251, rs118192217, rs118192218, rs118192219, rs118192222, rs118192226, rs118192228, rs118192234, rs118192236, rs118192235, rs118192241, rs118192242, rs118192185, rs118192188, rs118192245, rs118192246, rs118192186, rs118192194, rs118192197, rs118192199, rs118192201, rs118192202, rs118192203, rs118192204, rs118192205, rs118192206, rs118192208, rs118192211, rs118192216, rs118192239, rs387906684, rs387906686, rs387906687, rs1596893185, rs387907126, rs387907281, rs397515405, rs587778771, rs730882067, rs730882073, rs397514579, rs397514582, rs587776976, rs398122394, rs121918784, rs121918751, rs121918735, rs398123588, rs587780450, rs61749751, rs587777620, rs727503974, rs730882124, rs794726710, rs794726697, rs794726799, rs794727444, rs794727740, rs796053166, rs794726825, rs796052676, rs796053219, rs796053220, rs796053228, rs796052653, rs759584387, rs796052650, rs796052641, rs796052626, rs796052623, rs796052663, rs796052615, rs796052802, rs797044999, rs797045047, rs797045942, rs797045941, rs118192212, rs797044938, rs777257591, rs864321712, rs879255652, rs886039268, rs886039517, rs886039529, rs199497486, rs886039496, rs886039903, rs886041300, rs769827124, rs886041339, rs886041591, rs587783092, rs1555850151, rs1057516123, rs1057516121, rs1057516115, rs1057516111, rs1057516106, rs1057516105, rs756921902, rs1057516089, rs1057516087, rs1057516080, rs1057516076, rs1060499544, rs1555850512, rs1057517919, rs118192231, rs1057520413, rs1060503101, rs1064796294, rs1064794981, rs1064794632, rs1064797245, rs1131691830, rs1131692231, rs1131691936, rs1554626549, rs1553579225, rs1553531385, rs121918736, rs1554898088, rs1553579282, rs763353895, rs1553463119, rs1554093891, rs77838305, rs1555408401, rs1554627439, rs1554097873, rs1555850403, rs1064794719, rs1315483224, rs1567134495, rs770187706, rs1057518555, rs1576983339, rs1574192005, rs1459374430, rs1586800133, rs1574641522, rs1572096837, rs1572630269, rs1574554892, rs1574556643, rs1574571769, rs1574641605, rs1574697769, rs1574716524, rs1574746733, rs1574746935, rs1574752700, rs1574754680, rs863225030, rs1601545088, rs1600714727, rs1371059392, rs1600767259, rs1339542565, rs1600785769, rs2065899210, rs1600732174, rs1162306056, rs879255709, rs1900111672, rs2066910297, rs1554122080, rs796052941, rs1600789325, rs2082695884, rs1737677036, rs1737495759, rs868389022, rs1737685202, rs1737672350, rs762737130	23027747

Unknown
Disease name	Disease term	dbSNP ID	References
Anxiety disorder	Anxiety		29942085
Bipolar disorder	Bipolar Disorder		23453885
Clonic seizures	Clonic Seizures		23027747
Coronary heart disease	Coronary heart disease	rs9289231, rs281864746	24262325, 21347282, 21378990
Development disorder	Child Development Disorders, Pervasive		23453885
Hypomagnesemia, seizures, and mental retardation	HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION		24699222, 27604308
Hypotonic seizures	Epileptic drop attack		23027747
Jacksonian seizure	Jacksonian Seizure		23027747
Mental depression	Major Depressive Disorder	rs587778876, rs587778877	23453885
Hypomagnesemia with normocalciuria and normocalcemia	Familial primary hypomagnesemia with normocalciuria and normocalcemia		21397062